Article
Novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family.
Neurobiology of aging - 1 Dec 2013
Guerreiro Rita, Bilgic Basar, Guven Gamze, Brás José, Rohrer Jonathan, Lohmann Ebba, Hanagasi Hasmet, Gurvit Hakan, Emre Murat
Abstract excerpt
Triggering receptor expressed on myeloid cells 2 (TREM2) homozygous mutations cause Nasu-Hakola disease, an early-onset recessive form of dementia preceded by bone cysts and fractures. The same type of mutations has recently been shown to cause frontotemporal dementia (FTD) without the presence of any bone phenotype. Here, we further confirm the association of TREM2 mutations with FTD-like phenotypes by reporting...
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